Canonical Allele Identifier: CA392975720

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68510932A>G (hg19) ; chr15:g.68218594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218594A>G , CM000677.2:g.68218594A>G	GRCh38
NC_000015.9:g.68510932A>G , CM000677.1:g.68510932A>G	GRCh37
NC_000015.8:g.66297986A>G	NCBI36
NG_008764.2:g.43618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.140T>C MANE Select	ENSP00000249806.5:p.Leu47Pro
ENST00000562767.2:c.83+10908T>C	ENSP00000456336.1:n.83+10908T>C
ENST00000563917.2:n.41-4206T>C
ENST00000565471.6:c.84-8835T>C	ENSP00000457384.1:n.84-8835T>C
ENST00000569336.2:n.49T>C
ENST00000635747.1:c.*43T>C	ENSP00000490627.1:n.*43T>C
ENST00000636020.1:n.272T>C
ENST00000636212.1:c.140T>C	ENSP00000489851.1:p.Leu47Pro
ENST00000636314.1:c.84-4206T>C	ENSP00000490295.1:n.84-4206T>C
ENST00000636876.1:c.*160T>C	ENSP00000489950.1:n.*160T>C
ENST00000637054.1:c.140T>C	ENSP00000490807.1:p.Leu47Pro
ENST00000637223.1:c.*43T>C	ENSP00000490010.1:n.*43T>C
ENST00000637329.1:c.51T>C
ENST00000637450.1:c.84-4206T>C	ENSP00000490204.1:n.84-4206T>C
ENST00000637494.1:c.140T>C	ENSP00000490057.1:p.Leu47Pro
ENST00000637667.1:c.140T>C	ENSP00000489843.1:p.Leu47Pro
ENST00000637823.1:c.66T>C
ENST00000637888.1:c.140T>C	ENSP00000490546.1:p.Leu47Pro
ENST00000638076.1:c.140T>C	ENSP00000490373.1:p.Leu47Pro
ENST00000638144.1:n.31-4206T>C
ENST00000249806.9:c.140T>C	ENSP00000249806.5:p.Leu47Pro
ENST00000538696.5:c.236T>C	ENSP00000445770.1:p.Leu79Pro
ENST00000562767.1:c.83+10908T>C	ENSP00000456336.1:n.83+10908T>C
ENST00000564752.1:c.140T>C	ENSP00000457822.1:p.Leu47Pro
ENST00000564846.1:n.572T>C
ENST00000565471.5:c.84-8835T>C	ENSP00000457384.1:n.84-8835T>C
ENST00000566347.5:c.140T>C	ENSP00000457783.1:p.Leu47Pro
ENST00000567060.5:c.140T>C	ENSP00000454818.1:p.Leu47Pro
ENST00000569336.1:n.226T>C
NM_017882.2:c.140T>C	NP_060352.1:p.Leu47Pro
XR_931861.1:n.243T>C
NM_017882.3:c.140T>C MANE Select	NP_060352.1:p.Leu47Pro